Results 91 to 100 of about 17,498 (250)

Making Molecular Diagnostics Faster

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Over the past 40 years, molecular diagnostic methods have evolved from multi‐step, time‐consuming protocols towards either rapid targeted tests or expansive, massively parallel testing. Aims Here we consider the speed limits of targeted molecular diagnostics, considering the three sequential required steps: nucleic acid preparation,
Carl T. Wittwer, Luming Zhou, Felix Ye, Adam Millington, Adrian de Cola, Noriko Kusukawa   +5 more
wiley   +1 more source

O-Linked N-Acetylglucosamine (O-GlcNAc) Transferase and O-GlcNAcase Interact with Mi2β Protein at the Aγ-Globin Promoter [PDF]

, 2016
Zhen Zhang, Flavia C Costa, Ee Phie Tan, Nathan Bushue, Luciano DiTacchio, Catherine E. Costello, Mark E. McComb, Stephen A. Whelan, Kenneth R. Peterson, Chad Slawson   +9 more
openalex   +1 more source

Molecular Testing in Sickle Cell Disease: From Newborn Screening to Transfusion Care

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is one of the most frequent monogenic diseases worldwide and a highly heterogeneous and complex disease. SCD care carries several challenges. This includes early and accurate diagnosis as well as optimal red blood cell transfusion matching in this population carrying a high risk of alloimmunization.
Thomas Pincez, Yves D. Pastore
wiley   +1 more source

What influences Hb fetal production in adulthood?

Revista Brasileira de Hematologia e Hemoterapia, 2011
Human hemoglobin genes are located in α and β globin gene clusters in chromosomes 16 and 11, respectively. Different types of hemoglobin are synthesized according to the stage of development with fetal hemoglobin (α2γ2) (Hb F) being ...
Gisele Cristine de Souza Carrocini, Paula Juliana Antoniazzo Zamaro, Claudia Regina Bonini-Domingos   +2 more
doaj   +1 more source

ACMG/AMP‐Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non‐Deletional Hb H Disease

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Accurate classification of novel globin gene variants is critical for the diagnosis and management of thalassaemia. The adaptation of ACMG/AMP guidelines for globin genes represents an important step toward standardising variant interpretation and enhancing clinical utility in the field.
Norafiza Mohd Yasin, Suguna Somasundram, Syahzuwan Hassan, Nur Aisyah Aziz, Faidatul Syazlin Abdul Hamid, Ezzanie Suffya Zulkefli, Nor Nazuha Mohamad, Chin Ming Lee, Mohd Nazif Darawi, Thessalia Papasavva, Coralea Stephanou, Petros Kountouris, Sandra J. G. Arkesteijn, Tamara Koopman, Cornelis L. Harteveld   +14 more
wiley   +1 more source

Point mutation associated with hereditary persistence of fetal hemoglobin decreases RNA polymerase III transcription upstream of the affected gamma-globin gene. [PDF]

, 1986
David P. Carlson, Jeffrey Ross
openalex   +1 more source

Associations Between Climate‐Sensitive Nutrients, Clinical Malaria, and Anaemia Among Young Children in Rural Burkina Faso: An Analysis of Baseline Data From a Cluster‐Randomised Controlled Trial

Tropical Medicine &International Health, EarlyView.
ABSTRACT Objective Malaria and anaemia are significant public health challenges among young children in Burkina Faso, with complex interactions between climate variability, food security, and nutrient deficiencies. This study aimed to identify the malariometric profile and nutrient patterns among young children and to determine the associations of ...
Adi Lukas Kurniawan, Maria Virginia Borga, Fanta Zerbo, Carol Akinyi Abidha, Anais Gonnet, Raissa Sorgho, Boubacar Coulibaly, Ali Sié, Ina Danquah   +8 more
wiley   +1 more source

A multi‐omics investigation of sarcopenia and frailty: Integrating genomic, epigenomic and telomere length data

Experimental Physiology, EarlyView.
Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė, Erinija Pranckevičienė, Alina Urnikytė, Laura Jurkūnaitė, Kristijona Gutauskaitė, Rūta Dadelienė, Justina Kilaitė, Ieva Eglė Jamontaitė, Asta Mastavičiūtė, Ildus I. Ahmetov, Vidmantas Alekna   +10 more
wiley   +1 more source

Metabolic stimulation improves bioenergetics and haematologic indices of circulating erythrocytes from sickle cell mice

The Journal of Physiology, EarlyView.
Abstract figure legend Metabolic stimulation improves bioenergetics, redox state, hydration and hematologic indices of circulating erythrocytes from sickle cell mice. Retained mitochondria in circulating RBCs from sickle mice are a source of RBC ATP as mitochondria function (ETC, electron transport chain) inhibitors [rotenone, a mitochondrial complex I
Luis E. F. Almeida, Meghann L. Smith, Sayuri Kamimura, Sebastian Vogel, Zenaide M. N. Quezado   +4 more
wiley   +1 more source

549 VISUALIZATION OF HUMAN GLOBIN GENES BY RESTRICTION ENDONUCLEASE MAPPING: A NEW APPROACH TO THE PRENATAL DIAGNOSIS OF GLOBIN GENE DELETION [PDF]

, 1978
Stuart H. Orkin, David G. Nathan
openalex   +1 more source